The prevalence and molecular basis of hemoglobinopathies in Cambodia. Carnley, B., P., Prior, J., F., Gilbert, A., Lim, E., Devenish, R., Sing, H., Sarin, E., Guhadasan, R., Sullivan, S., G., Wise, C., A., Bittles, A., H., Chan, K., Wong, M., S., Chan, V., & Erber, W., N. Hemoglobin, 30(4):463-470, 2006.
The prevalence and molecular basis of hemoglobinopathies in Cambodia [link]Website  abstract   bibtex   
Blood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at Siem Reap to assess the prevalence of thalassemia and other hemoglobinopathies in regional Cambodia. Hemoglobinopathies were present in 134 children (51.5%) with 20 abnormal genotypes identified. alpha-Thalassemia (thal) (35.4%) was the most prevalent disorder and the -alpha3.7 gene deletion was the most common alpha-globin gene abnormality. The - -SEA deletion and nondeletional forms of alpha-thal, Hb Constant Spring [Hb CS, alpha142, Term-->Gln, TAA-->CAA (alpha2)], Hb Pakse [alpha142, Term-->Tyr, TAA-->TAT (alpha2)] and triplicated alpha genes, were also present but at low frequencies. Hb E [beta26(B8)Glu-->Lys, GAG-->AAG] (28.8%) was the most common beta-globin gene abnormality, whilst beta-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous -alpha3.7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia.
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 title = {The prevalence and molecular basis of hemoglobinopathies in Cambodia},
 type = {article},
 year = {2006},
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 keywords = {Adolescent,Blood Cell Count,Cambodia/epidemiology,Child,Child, Preschool,Chromatography, High Pressure Liquid,Cross-Sectional Studies,Female,Globins/*genetics,Hemoglobin E/genetics,Hemoglobins, Abnormal/genetics,Humans,Infant,Male,Polymerase Chain Reaction,Prevalence,Sequence Analysis, DNA,alpha-Thalassemia/epidemiology/*genetics,beta-Thalassemia/epidemiology/*genetics},
 pages = {463-470},
 volume = {30},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16987801},
 edition = {2006/09/22},
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 language = {eng},
 notes = {<m:note>Carnley, Benedict P<m:linebreak/>Prior, John F<m:linebreak/>Gilbert, Anne<m:linebreak/>Lim, Erna<m:linebreak/>Devenish, Robyn<m:linebreak/>Sing, Heng<m:linebreak/>Sarin, Eng<m:linebreak/>Guhadasan, Rathi<m:linebreak/>Sullivan, Sheena G<m:linebreak/>Wise, Cheryl A<m:linebreak/>Bittles, Alan H<m:linebreak/>Chan, Kaimin<m:linebreak/>Wong, Man-Sim<m:linebreak/>Chan, Vivian<m:linebreak/>Erber, Wendy N<m:linebreak/>Research Support, Non-U.S. Gov't<m:linebreak/>United States<m:linebreak/>Hemoglobin<m:linebreak/>X76955854m1m0735<m:linebreak/>Hemoglobin. 2006;30(4):463-70.</m:note>},
 abstract = {Blood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at Siem Reap to assess the prevalence of thalassemia and other hemoglobinopathies in regional Cambodia. Hemoglobinopathies were present in 134 children (51.5%) with 20 abnormal genotypes identified. alpha-Thalassemia (thal) (35.4%) was the most prevalent disorder and the -alpha3.7 gene deletion was the most common alpha-globin gene abnormality. The - -SEA deletion and nondeletional forms of alpha-thal, Hb Constant Spring [Hb CS, alpha142, Term-->Gln, TAA-->CAA (alpha2)], Hb Pakse [alpha142, Term-->Tyr, TAA-->TAT (alpha2)] and triplicated alpha genes, were also present but at low frequencies. Hb E [beta26(B8)Glu-->Lys, GAG-->AAG] (28.8%) was the most common beta-globin gene abnormality, whilst beta-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous -alpha3.7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia.},
 bibtype = {article},
 author = {Carnley, B P and Prior, J F and Gilbert, A and Lim, E and Devenish, R and Sing, H and Sarin, E and Guhadasan, R and Sullivan, S G and Wise, C A and Bittles, A H and Chan, K and Wong, M S and Chan, V and Erber, W N},
 journal = {Hemoglobin},
 number = {4}
}
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